Incidental Mutation 'IGL03140:Cd48'
ID 410674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd48
Ensembl Gene ENSMUSG00000015355
Gene Name CD48 antigen
Synonyms Sgp-60, BCM1, Bcm-1, BLAST-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03140
Quality Score
Status
Chromosome 1
Chromosomal Location 171509577-171532826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171523451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 98 (V98A)
Ref Sequence ENSEMBL: ENSMUSP00000064241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015499] [ENSMUST00000068584]
AlphaFold P18181
PDB Structure Structure of NK cell receptor 2B4 (CD244) bound to its ligand CD48 [X-RAY DIFFRACTION]
Structure of NK cell receptor ligand CD48 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000015499
AA Change: V98A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015499
Gene: ENSMUSG00000015355
AA Change: V98A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068584
AA Change: V98A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: V98A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
IG_like 136 211 1.24e2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in a slight increase in CD4+CD8- thymocytes and impaired T cell proliferation in response to mitogens, anti-CD3 antibodies, and alloantigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,982,576 (GRCm39) probably benign Het
Chd9 A T 8: 91,768,856 (GRCm39) R2485S possibly damaging Het
Clec4a2 T C 6: 123,117,735 (GRCm39) probably benign Het
Ddx21 A G 10: 62,429,850 (GRCm39) L298S probably damaging Het
Efl1 A G 7: 82,342,089 (GRCm39) E499G probably benign Het
Fry A G 5: 150,419,166 (GRCm39) N2870S probably damaging Het
Ints8 G A 4: 11,235,565 (GRCm39) P355S probably damaging Het
Kmo T A 1: 175,476,786 (GRCm39) V200D probably damaging Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Mus81 T C 19: 5,533,984 (GRCm39) T416A probably damaging Het
Nlrp6 T C 7: 140,507,400 (GRCm39) S889P probably benign Het
Nlrp9c T A 7: 26,079,914 (GRCm39) D704V probably benign Het
Olfml2a A G 2: 38,837,303 (GRCm39) K149E probably damaging Het
Ovgp1 A G 3: 105,887,222 (GRCm39) D206G probably damaging Het
Pcdhb3 T G 18: 37,434,272 (GRCm39) H79Q probably benign Het
Pira13 T C 7: 3,826,247 (GRCm39) N249D probably benign Het
Rnf19b T A 4: 128,977,889 (GRCm39) V701D probably benign Het
Setd2 T C 9: 110,444,020 (GRCm39) probably null Het
Ubr3 A G 2: 69,800,533 (GRCm39) Y952C probably damaging Het
Vmn1r205 T C 13: 22,776,746 (GRCm39) I119V possibly damaging Het
Zfhx4 T G 3: 5,307,585 (GRCm39) D270E probably damaging Het
Other mutations in Cd48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Cd48 APN 1 171,523,307 (GRCm39) missense possibly damaging 0.95
R0311:Cd48 UTSW 1 171,527,148 (GRCm39) nonsense probably null
R0490:Cd48 UTSW 1 171,532,445 (GRCm39) makesense probably null
R1365:Cd48 UTSW 1 171,527,129 (GRCm39) missense probably damaging 0.98
R1503:Cd48 UTSW 1 171,523,415 (GRCm39) missense probably damaging 1.00
R1626:Cd48 UTSW 1 171,509,687 (GRCm39) missense probably benign 0.30
R1628:Cd48 UTSW 1 171,532,420 (GRCm39) missense probably damaging 0.99
R4076:Cd48 UTSW 1 171,523,451 (GRCm39) missense probably damaging 1.00
R4753:Cd48 UTSW 1 171,527,156 (GRCm39) missense probably damaging 0.99
R5488:Cd48 UTSW 1 171,523,273 (GRCm39) missense possibly damaging 0.94
R6365:Cd48 UTSW 1 171,509,732 (GRCm39) missense probably null 0.84
R7216:Cd48 UTSW 1 171,523,390 (GRCm39) missense probably damaging 1.00
R7400:Cd48 UTSW 1 171,523,493 (GRCm39) missense probably benign 0.00
R7702:Cd48 UTSW 1 171,523,348 (GRCm39) missense probably damaging 0.99
R8041:Cd48 UTSW 1 171,526,958 (GRCm39) missense probably damaging 0.99
R9424:Cd48 UTSW 1 171,532,432 (GRCm39) missense possibly damaging 0.92
Z1088:Cd48 UTSW 1 171,523,295 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02